单卵双胞胎的 DNA 鉴定

IF 3.2 2区 医学 Q2 GENETICS & HEREDITY Forensic Science International-Genetics Pub Date : 2023-12-13 DOI:10.1016/j.fsigen.2023.102998
Hsiao-Lin Hwa , Chun-Yen Lin , Yu-Jen Yu , Adrian Linacre , James Chun-I. Lee
{"title":"单卵双胞胎的 DNA 鉴定","authors":"Hsiao-Lin Hwa ,&nbsp;Chun-Yen Lin ,&nbsp;Yu-Jen Yu ,&nbsp;Adrian Linacre ,&nbsp;James Chun-I. Lee","doi":"10.1016/j.fsigen.2023.102998","DOIUrl":null,"url":null,"abstract":"<div><p>This study details the differentiation of identical twins<span><span> based on single mutational base differences. There were three pairs of male monozygotic (MZ) twins in this study. DNA samples from blood, a </span>buccal swab<span> or saliva from each individual were all initially genotyped using 22 autosomal STR<span> and 27 Y-STR loci. Preliminary screening confirmed there were no differences in the STR data between each pair of MZ twins. Whole Genome Sequence (WGS) data were generated from DNA extracted from the three body fluids from each individual. Kinship coefficients with 0.4254, 0.4557 and 0.4543 from 3 twins were generated based on WGS data to further confirm that their relationship was that of MZ twins. The fastq data generated by the Illumina Hiseq 2000 between MZ twins were then treated as “normal” as opposed to “tumor” using commercially available software tools to identify mutational single base changes. Sanger DNA sequencing confirmed there were 1, 5 and 9 single base changes found in WGS data from each of the three MZ twin sets. There was individual variation in the mutational base changes when comparing data from the three body fluids. The methods used in this study to differentiate MZ twins based on WGS data can readily be performed in many operational forensic DNA laboratories using user friendly software.</span></span></span></p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.2000,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"DNA identification of monozygotic twins\",\"authors\":\"Hsiao-Lin Hwa ,&nbsp;Chun-Yen Lin ,&nbsp;Yu-Jen Yu ,&nbsp;Adrian Linacre ,&nbsp;James Chun-I. Lee\",\"doi\":\"10.1016/j.fsigen.2023.102998\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>This study details the differentiation of identical twins<span><span> based on single mutational base differences. There were three pairs of male monozygotic (MZ) twins in this study. DNA samples from blood, a </span>buccal swab<span> or saliva from each individual were all initially genotyped using 22 autosomal STR<span> and 27 Y-STR loci. Preliminary screening confirmed there were no differences in the STR data between each pair of MZ twins. Whole Genome Sequence (WGS) data were generated from DNA extracted from the three body fluids from each individual. Kinship coefficients with 0.4254, 0.4557 and 0.4543 from 3 twins were generated based on WGS data to further confirm that their relationship was that of MZ twins. The fastq data generated by the Illumina Hiseq 2000 between MZ twins were then treated as “normal” as opposed to “tumor” using commercially available software tools to identify mutational single base changes. Sanger DNA sequencing confirmed there were 1, 5 and 9 single base changes found in WGS data from each of the three MZ twin sets. There was individual variation in the mutational base changes when comparing data from the three body fluids. The methods used in this study to differentiate MZ twins based on WGS data can readily be performed in many operational forensic DNA laboratories using user friendly software.</span></span></span></p></div>\",\"PeriodicalId\":50435,\"journal\":{\"name\":\"Forensic Science International-Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2023-12-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Forensic Science International-Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1872497323001734\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Forensic Science International-Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1872497323001734","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

这项研究详细介绍了基于单突变碱基差异的同卵双胞胎的分化。本研究有三对男性同卵双胞胎。从每个个体的血液、口腔拭子或唾液中提取的DNA样本都使用22个常染色体STR和27个Y-STR位点进行初始基因分型。初步筛选证实,每对MZ双胞胎之间的STR数据没有差异。全基因组序列(WGS)数据由从每个个体的三种体液中提取的DNA生成。根据WGS数据,对3对双胞胎的亲属关系系数分别为0.4254、0.4557和0.4543,进一步确认其为MZ双胞胎的亲属关系。Illumina Hiseq 2000在MZ双胞胎之间产生的快速q数据随后被视为“正常”而不是“肿瘤”,使用商用软件工具来识别突变的单碱基变化。Sanger DNA测序证实,在三对MZ双胞胎的WGS数据中分别发现了1、5和9个单碱基变化。当比较来自三种体液的数据时,突变碱基的变化存在个体差异。本研究中使用的基于WGS数据区分MZ双胞胎的方法可以在许多可操作的法医DNA实验室中使用用户友好的软件轻松执行。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
DNA identification of monozygotic twins

This study details the differentiation of identical twins based on single mutational base differences. There were three pairs of male monozygotic (MZ) twins in this study. DNA samples from blood, a buccal swab or saliva from each individual were all initially genotyped using 22 autosomal STR and 27 Y-STR loci. Preliminary screening confirmed there were no differences in the STR data between each pair of MZ twins. Whole Genome Sequence (WGS) data were generated from DNA extracted from the three body fluids from each individual. Kinship coefficients with 0.4254, 0.4557 and 0.4543 from 3 twins were generated based on WGS data to further confirm that their relationship was that of MZ twins. The fastq data generated by the Illumina Hiseq 2000 between MZ twins were then treated as “normal” as opposed to “tumor” using commercially available software tools to identify mutational single base changes. Sanger DNA sequencing confirmed there were 1, 5 and 9 single base changes found in WGS data from each of the three MZ twin sets. There was individual variation in the mutational base changes when comparing data from the three body fluids. The methods used in this study to differentiate MZ twins based on WGS data can readily be performed in many operational forensic DNA laboratories using user friendly software.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
7.50
自引率
32.30%
发文量
132
审稿时长
11.3 weeks
期刊介绍: Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts. The scope of the journal includes: Forensic applications of human polymorphism. Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies. Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms. Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications. Non-human DNA polymorphisms for crime scene investigation. Population genetics of human polymorphisms of forensic interest. Population data, especially from DNA polymorphisms of interest for the solution of forensic problems. DNA typing methodologies and strategies. Biostatistical methods in forensic genetics. Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches. Standards in forensic genetics. Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards. Quality control. Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies. Criminal DNA databases. Technical, legal and statistical issues. General ethical and legal issues related to forensic genetics.
期刊最新文献
TigerBase: A DNA registration system to enhance enforcement and compliance testing of captive tiger facilities Editorial Board Dense SNP-based analyses complement forensic anthropology biogeographical ancestry assessments Uncertainty in the number of contributor estimation methods applied to a Y-STR profile Shotgun DNA sequencing for human identification: Dynamic SNP selection and likelihood ratio calculations accounting for errors
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1